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ZMPSTE24

ZMPSTE24 is a human gene.^[1][2] The protein encoded by this gene is a metallopeptidase. It is involved in the processing of lamin A.^[3] Defects in the ZMPSTE24 gene lead to similar laminopathies as defects in lamin A, because the latter is a substrate for the former.^[4] In humans, a mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.^[5] Failure to correctly process prelamin A leads to deficient ability to repair DNA double-strand breaks.^[6][7]

As shown by Liu et al.,^[8] lack of Zmpste24 prevents lamin A formation from its precursor farnesyl-prelamin A. Lack of ZMPSTE24 causes progeroid phenotypes in mice and humans. This lack increases DNA damage and chromosome aberrations and sensitivity to DNA-damaging agents that cause double-strand breaks. Also, lack of ZMPSTE24 allows an increase in non-homologous end joining, but a deficiency in steps leading to homologous recombinational DNA repair.

• Progeria
• Progeroid syndromes

• ZMPSTE24 human gene location in the UCSC Genome Browser.
• ZMPSTE24 human gene details in the UCSC Genome Browser.

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